Stereochemical, Structural, and Thermodynamic Origins of Stability Differences between Stereoisomeric Benzo[a]pyrene Diol Epoxide Deoxyadenosine Adducts in a DNA Mutational Hot Spot Sequence

2001 ◽  
Vol 123 (29) ◽  
pp. 7054-7066 ◽  
Author(s):  
Shixiang Yan ◽  
Robert Shapiro ◽  
Nicholas E. Geacintov ◽  
Suse Broyde
Biochemistry ◽  
1999 ◽  
Vol 38 (3) ◽  
pp. 1144-1152 ◽  
Author(s):  
Ingrid Pontén ◽  
Jane M. Sayer ◽  
Anthony S. Pilcher ◽  
Haruhiko Yagi ◽  
Subodh Kumar ◽  
...  

Biochemistry ◽  
2000 ◽  
Vol 39 (14) ◽  
pp. 4136-4144 ◽  
Author(s):  
Ingrid Pontén ◽  
Jane M. Sayer ◽  
Anthony S. Pilcher ◽  
Haruhiko Yagi ◽  
Subodh Kumar ◽  
...  

ChemInform ◽  
2010 ◽  
Vol 24 (15) ◽  
pp. no-no
Author(s):  
M. K. LAKSHMAN ◽  
H. J. C. YEH ◽  
H. YAGI ◽  
D. M. JERINA

1992 ◽  
Vol 33 (47) ◽  
pp. 7121-7124 ◽  
Author(s):  
Mahesh K. Lakshman ◽  
Herman J.C. Yeh ◽  
Haruhiko Yagi ◽  
Donald M. Jerina

1996 ◽  
Vol 75 (04) ◽  
pp. 546-550 ◽  
Author(s):  
Marianne Schwartz ◽  
Albert Békássy ◽  
Mikael Donnér ◽  
Thomas Hertel ◽  
Stefan Hreidarson ◽  
...  

SummaryTwelve different mutations in the WASP gene were found in twelve unrelated families with Wiskott-Aldrich syndrome (WAS) or X-linked thrombocytopenia (XLT). Four frameshift, one splice, one nonsense mutation, and one 18-base-pair deletion were detected in seven patients with WAS. Only missense mutations were found in five patients diagnosed as having XLT. One of the nucleotide substitutions in exon 2 (codon 86) results in an Arg to Cys replacement. Two other nucleotide substitutions in this codon, R86L and R86H, have been reported previously, both giving rise to typical WAS symptoms, indicating a mutational hot spot in this codon. The finding of mutations in the WASP gene in both WAS and XLT gives further evidence of these syndromes being allelic. The relatively small size of the WASP gene facilitates the detection of mutations and a reliable diagnosis of both carriers and affected fetuses in families with WAS or XLT.


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